Sant Pau Memory Unit, Department of Neurology, Hospital de la Santa Creu i Sant Pau, Biomedical Research Institute Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain.
Center of Biomedical Investigation Network for Neurodegenerative Diseases (CIBERNED), Madrid, Spain.
Alzheimers Dement. 2024 Sep;20(9):6527-6541. doi: 10.1002/alz.14146. Epub 2024 Aug 1.
In Down syndrome (DS), white matter hyperintensities (WMHs) are highly prevalent, yet their topography and association with sociodemographic data and Alzheimer's disease (AD) biomarkers remain largely unexplored.
In 261 DS adults and 131 euploid controls, fluid-attenuated inversion recovery magnetic resonance imaging scans were segmented and WMHs were extracted in concentric white matter layers and lobar regions. We tested associations with AD clinical stages, sociodemographic data, cerebrospinal fluid (CSF) AD biomarkers, and gray matter (GM) volume.
In DS, total WMHs arose at age 43 and showed stronger associations with age than in controls. WMH volume increased along the AD continuum, particularly in periventricular regions, and frontal, parietal, and occipital lobes. Associations were found with CSF biomarkers and temporo-parietal GM volumes.
WMHs increase 10 years before AD symptom onset in DS and are closely linked with AD biomarkers and neurodegeneration. This suggests a direct connection to AD pathophysiology, independent of vascular risks.
White matter hyperintensities (WMHs) increased 10 years before Alzheimer's disease symptom onset in Down syndrome (DS). WMHs were strongly associated in DS with the neurofilament light chain biomarker. WMHs were more associated in DS with gray matter volume in parieto-temporal areas.
唐氏综合征（DS）患者脑白质高信号（WMHs）极为常见，但这些病灶的分布情况及其与社会人口统计学数据和阿尔茨海默病（AD）生物标志物的关联仍很大程度上尚未被探索。
在 261 名 DS 成年患者和 131 名正常核型对照者中，我们对液体衰减反转恢复磁共振成像扫描进行了分割，并在同心白质层和脑叶区域提取了 WMHs。我们检测了其与 AD 临床分期、社会人口统计学数据、脑脊液（CSF）AD 生物标志物和灰质（GM）体积的关联。
DS 患者的总 WMHs 在 43 岁时出现，并与年龄的相关性强于对照组。WMH 体积沿着 AD 连续体增加，特别是在脑室周围区域以及额、顶和枕叶。与 CSF 生物标志物和颞顶叶 GM 体积存在关联。
DS 患者的 WMHs 在 AD 症状出现前 10 年增加，且与 AD 生物标志物和神经退行性变密切相关。这表明与 AD 病理生理学有直接联系，与血管风险无关。
在唐氏综合征（DS）中，脑白质高信号（WMHs）在阿尔茨海默病（AD）症状出现前 10 年增加。在 DS 中，WMHs 与神经丝轻链生物标志物强烈相关。在 DS 中，WMHs 与顶颞叶灰质体积的相关性更强。
